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Author/Creator Dupont, Jean Michel

1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018)

Authors:
Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 5(2020)
Page Start:
301
Record Type:
Journal Article
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2. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature. (7th September 2022)

Authors:
Capron, Céline; Januel, Louis; Vieville, Gaëlle; Jaillard, Sylvie; Kuentz, Paul; Salaun, Gaëlle; Nadeau, Gwenaël; Clement, Patrice; Brechard, Marie Pierre; Herve, Bérénice; Dupont, Jean Michel; Gruchy, Nicolas; Chambon, Pascal; Abdelhedi, Fatma; Dahlen, Eric; Vago, Philippe; Harbuz, Radu; Plotton...
Journal:
Andrology
Issue:
Volume 10:Number 8(2022)
Page Start:
1625
Record Type:
Journal Article
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3. Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Issue 5 (20th December 2022)

Authors:
Lajmi, Yosra; Loeuillet, Laurence; Petrilli, Giulia; Egloff, Charles; Nectoux, Juliette; Molac, Clémence; Roux, Nathalie; Pannier, Emmanuelle; Achaiaa, Amale; Arkoub, Zaina Ait; Chuon, Sophie; Coussement, Aurélie; Dupont, Jean Michel; Malan, Valérie; Spaggiari, Emmanuel; Razavi, Ferechte; Amiel, ...
Journal:
Birth defects research
Issue:
Volume 115:Issue 5(2023)
Page Start:
563
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗